Roche Embraces Three-Way Rare-Disease Play With PTC and Patient Group

Yesterday, European drug giant Roche and South Plainfield, NJ-based PTC Therapeutics announced they had entered into a drug-development pact that could be worth as much as $490 million to PTC. Such alliances are nothing new, especially these days, when Big Pharma companies are increasingly looking towards their smaller rivals for innovations. But this deal is unusual in that it includes a third partner—a not-for-profit organization that is so dedicated to finding cures for a rare but devastating disease that it “earned a seat at the table” for the development process, says Claudia Hirawat, senior vice president for corporate development at PTC.

The disease is called spinal muscular atrophy (SMA), and the organization is the SMA Foundation, based in New York. SMA is a genetic disease that causes muscles to weaken and atrophy over time. About 9,000 people in the United States have the disease, and it is the number-one cause of gene-related deaths in infants and toddlers, according to the SMA Foundation. The organization—founded in 2003 by Loren Eng and Dinakar Singh, who have a child with SMA—has so far devoted $100 million to SMA research efforts.

PTC started collaborating with the SMA Foundation in 2006, Hirawat says, and generated several compounds designed to target the root of the disease. SMA is caused by a defect in a gene called SMN1, which makes a protein that’s critical for maintaining healthy motor neurons—the nerve cells in the spinal cord that are responsible for muscle contraction. Using a process called “alternative splicing,” PTC generated drugs that prompt a backup gene to produce more of the vital protein.

Last year, PTC started to generate promising data in animal trials, Hirawat says. So the company began talking to potential development partners, including Roche, which had been working with PTC since … Next Page »